Bağcı, G.Acar, H.Tomruk, H.2020-03-262020-03-262001Bağcı, G., Acar, H., Tomruk, H., (2001). Different Chromosome Y Abnormalities in Turner Syndrome. Genetic Counseling, 12(3), 255-261.1015-8146https://hdl.handle.net/20.500.12395/17517Different Chromosome Y Abnormalities in Turner Syndrome: A 17-year-old phenotypically female girl was referred for evaluation because of short stature and primary amenorrhea. Cytogenetic analysis showed a mosaic 46,XY/45,X/47,XYY/46,X,idic(Yq)/47,XY,idic(Yq)/48,XXY,idic(Yq)/46,X,t(C:Y) karyotype. Conventional cytogenetic results were supplemented with fluorescence in situ hybridization (FISH) techniques to ensure a better characterization of abnormalities. By using FISH, a supernumerary marker chromosome derived from chromosome Y which could not be detected by conventional cytogenetics was revealed. Furthermore, additional abnormalities and their frequencies were highlighted by the application of DNA probes specific for X and Y chromosomes. Thus, FISH proved useful in determining low frequency cell lines which would need analysis of a large number of good quality metaphase spreads by conventional cytogenetic techniques; it helped in Identifying the nature and the origin of unknown markers and rearrangements which have important implication in sexual differentiation and development of gonadal tumours.eninfo:eu-repo/semantics/closedAccessTurner SyndromeIdic(Y)Mosaic 45,XFISHArticle12325526111693789WOS:000171591200007N/A